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A Chinese kindred report of Charcot-Marie-Tooth Disease Type 4C with the novel compound heterozygous variants in the SH3TC2 gene and a systematic review

2022-06-01

Abstract excerpt

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized clinically by early-onset severe scoliosis, foot deformities, predominantly distal weakness, muscle atrophy, sensory loss and cranial nerve deficits. Most patients carry missense mutations and nonsense mutations in chromosome 5q23-33 of SH3TC2 gene associated with Schwann cells. Through linkag...

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Literature Corpus work: 026cc30f-9d88-5fa6-9279-c9a8c4dc4f39
DOI: 10.21203/rs.3.rs-1598057/v1

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